Canonical Allele Identifier: CA448640473

Gene: F13A1

Linked Data

• dbSNP Id: rs1760996133
• gnomAD v4: 6-6181995-G-A
• COSMIC: COSM743393
• MyVariant Identifiers: chr6:g.6182228G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.6181995G>A , CM000668.2:g.6181995G>A	GRCh38
NC_000006.11:g.6182228G>A , CM000668.1:g.6182228G>A	GRCh37
NC_000006.10:g.6127227G>A	NCBI36
NG_008107.1:g.143697C>T , LRG_549:g.143697C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264870.8:c.1452C>T MANE Select	ENSP00000264870.3:p.Phe484=
ENST00000264870.7:c.1452C>T	ENSP00000264870.3:p.Phe484=
NM_000129.3:c.1452C>T , LRG_549t1:c.1452C>T	NP_000120.2:p.Phe484=
XM_006715010.2:c.1452C>T	XP_006715073.1:p.Phe484=
XM_011514342.1:c.1614C>T	XP_011512644.1:p.Phe538=
NM_000129.4:c.1452C>T MANE Select	NP_000120.2:p.Phe484=